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Tag Archives: Cystic Fibrosis

Choosing to start a family can be a complex
decision for many. You need to balance your desire to have a baby with an
assortment of real-life concerns about raising one. For some, a real concern is
the risk of passing on a genetic disorder to their child. If this is an issue
for you, a genetic counselor can be helpful.

Genetic or “hereditary”
conditions are diseases that run in families. If you or your partner has a
parent or grandparent with one of these types of conditions, there is an increased
chance that your baby is predisposed to developing it as well.

Genetic counselors are
specialists that can help you understand the causes of genetic conditions,
what types of screenings and diagnostic tests are available to you, and what your
chances are of having a baby with a genetic condition. In addition, genetic
counselors can help potential parents deal with how genetic conditions can affect
your family emotionally.

Genetic counselors can help
determine the likelihood of your baby developing a wide range of conditions,
including:

Single
gene disorders, such as cystic fibrosis, sickle-cell anemia, Tay-Sachs disease
or hemophilia

Chromosomal
abnormalities that can lead to conditions such as Down syndrome

Complex
disorders such as heart defects, spina bifida, or cleft palate which can be caused
by a combination of genetic predispositions and environmental factors

There
are multiple factors that can increase a person’s risk of passing along a
genetic disorder, including:

A family history
of a genetic disorder

A prior child with
a genetic disorder

One parent with a
chromosomal abnormality

Advanced maternal
age (35 or older)

Advanced paternal
age (40 or older)

Multiple
miscarriages or prior stillbirth

To help
prepare for your appointment, a genetic counselor may ask you to collect the
medical histories of you and your partner’s parents, grandparents, aunts, uncles,
and siblings, including a history of birth defects in your family. You may also
be asked to provide a history of all other known medical conditions in your
family, the age at which your family members were diagnosed and of any deaths
resulting from these conditions.

If you are planning a pregnancy a
genetic counselor can help you assess your risk-factors, review testing
options, provide education and resources, and help you make informed decisions.

To make an appointment with a genetic counselor at Jamaica Hospital’s Women’s Health Center, please call 718-291-3276.

All content of this newsletter is intended for general information purposes only and is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. Please consult a medical professional before adopting any of the suggestions on this page. You must never disregard professional medical advice or delay seeking medical treatment based upon any content of this newsletter. PROMPTLY CONSULT YOUR PHYSICIAN OR CALL 911 IF YOU BELIEVE YOU HAVE A MEDICAL EMERGENCY.

Cystic fibrosis (CF) is a hereditary disease that affects the cells in your body that make mucus. CF occurs when there is a mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The mutation disables cells from moving chloride (a component of salt) to their surfaces. Without the movement of chloride, cells cannot hydrate properly. This leads to the production of mucus that is thicker and stickier than normal.

CF can result in damage to the digestive system, lungs, and other organs that utilize mucus to function. The buildup of mucus can obstruct the ducts, tubes or passageways of these organs.

Those living with cystic fibrosis often have abnormally high levels of salt in their sweat. Other complications or symptoms that may develop as a result of the disease include:

Frequent lung infections, including recurrent pneumonia or bronchitis

Persistent cough with thick mucus

Frequent sinus infections

Wheezing

Shortness of breath

Nasal polyps

Fatigue

Delayed growth or puberty

Poor weight gain

Bowel movements of greasy bulky stools

Severe constipation

Male infertility

All babies born in the United States are screened for cystic fibrosis by testing small blood samples. In other cases, if someone is suspected to have CF, their doctor can order a sweat test to determine if chloride levels are normal.

Currently, there is no cure for CF. However; treatment is focused on alleviating symptoms and reducing complications. Treatment may include medications, physical therapy, pulmonary rehabilitation or surgery.

To learn more about cystic fibrosis or to make an appointment with a pulmonologist at Jamaica Hospital Medical Center, please call 718 206 7126.

All content of this newsletter is intended for general information purposes only and is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. Please consult a medical professional before adopting any of the suggestions on this page. You must never disregard professional medical advice or delay seeking medical treatment based upon any content of this newsletter. PROMPTLY CONSULT YOUR PHYSICIAN OR CALL 911 IF YOU BELIEVE YOU HAVE A MEDICAL EMERGENCY.